Varaico: Literature-Extracted Genetic Variants

ARHGEF1

123 papers

RefSeq Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with ...

Pfam Domains

RGS-likeaa 42–232UCSCRegulator of G protein signalling-like domain

RhoGEFaa 420–603UCSCRhoGEF domain

PH_16aa 632–760UCSCPH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 1

HGNC Alias Symbols

P115-RHOGEF; SUB1.5; LBCL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004706.4

p.D30G

c.89A>G

Surrounding Variants

1 paper

NM_004706.4

p.E29V

c.86A>T

1 paper

NM_004706.4

p.E29K

c.85G>A

1 paper

NM_004706.4

p.E32K

c.94G>A

1 paper

NM_004706.4

p.D28A

c.83A>C

2 papers

NM_004706.4

p.E27D

c.81G>C

1 paper

NM_004706.4

p.E27D

c.81G>T

1 paper

NM_004706.4

p.E27A

c.80A>C

3 papers

NM_004706.4

p.E27K

c.79G>A

1 paper

NM_004706.4

p.E34K

c.100G>A

1 paper

NM_004706.4

p.E36K

c.106G>A

1 paper

NM_004706.4

p.L18insFs

c.53_54ins4

1 paper

NM_004706.4

p.G17_V19del3

c.49_56del9